ロイス・ディーツ症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67473674	67473674	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)	SMAD3	Pathogenic/Likely pathogenic	15	67473653	67473653	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA392956090
Deletion	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3	Pathogenic/Likely pathogenic	14	76425664	76425667	TTCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798230
single nucleotide variant	NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	TGFB2	Pathogenic/Likely pathogenic	1	218610710	218610710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727446,OMIM:190220.0005
single nucleotide variant	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427373	76427373	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390468002
single nucleotide variant	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67358497	67358497	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA393202677
single nucleotide variant	NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	TGFB2	Pathogenic/Likely pathogenic	1	218609462	218609462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344727314
Duplication	NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs)	SMAD3	Pathogenic/Likely pathogenic	15	67479778	67479779	C	CTGTCTACCAGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619994
Deletion	NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer)	SMAD3	Pathogenic/Likely pathogenic	15	67358545	67358545	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619990